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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=32",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=30",
"results": [
{
"created": "2026-02-17T18:16:13.319869+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EBF2 as ready",
"entity_name": "EBF2",
"entity_type": "gene"
},
{
"created": "2026-02-17T18:16:13.309835+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ebf2 has been classified as Red List (Low Evidence).",
"entity_name": "EBF2",
"entity_type": "gene"
},
{
"created": "2026-02-17T18:14:54.616264+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EBF2 was added\ngene: EBF2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EBF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: EBF2 were set to 41615236; 38978649; 29704291\nPhenotypes for gene: EBF2 were set to Lipodystrophy, MONDO:0006573, EBF2-related\nReview for gene: EBF2 was set to RED\nAdded comment: PMIDs 38978649 and 41615236 each describe a single patient with a heterozygous nonsense p.Glu165Ter variant and childhood‑onset partial lipodystrophy, providing extensive functional validation. Heterozygous knock‑in mice (Ebf2^E165X/+) recapitulate restricted adipogenesis, extracellular matrix fibrosis, reduced leptin and adiponectin, metabolic impairment on high‑fat diet and mitochondrial gene down‑regulation, supporting pathogenicity. Dominant negative mechanism suggested.\r\n\r\nAlso note PMID 29704291 reports six affected individuals from one family with a heterozygous missense p.Ala72Val variant and isolated imperforate anus. No functional data provided. \nSources: Literature",
"entity_name": "EBF2",
"entity_type": "gene"
},
{
"created": "2026-02-17T16:36:16.517536+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.410",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Classified gene: SLC6A3 as Green List (high evidence)",
"entity_name": "SLC6A3",
"entity_type": "gene"
},
{
"created": "2026-02-17T16:36:16.510587+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.410",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Gene: slc6a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC6A3",
"entity_type": "gene"
},
{
"created": "2026-02-17T16:35:51.142889+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.409",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: SLC6A3 was added\ngene: SLC6A3 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC6A3 were set to 33528536; 21112253; 33098801\nPhenotypes for gene: SLC6A3 were set to Parkinsonism-dystonia, infantile, 1 MIM#613135\nReview for gene: SLC6A3 was set to GREEN\nAdded comment: PMID: 21112253 presents a clinical overview of 11 children with biallelic SLC6A3 mutations, 7 of which were initially diagnosed with CP. In addition, two more CP cohort studies with one patient each harboring SLC6A3 mutations.\r\n\r\nThis review was originally entered for SLC5A6 in error and has now been moved here \nSources: Literature",
"entity_name": "SLC6A3",
"entity_type": "gene"
},
{
"created": "2026-02-17T16:28:53.673390+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.408",
"user_name": "Lucy Spencer",
"item_type": "panel",
"text": "removed gene:SLC5A6 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-17T15:11:04.153984+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FARS2 as ready",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2026-02-17T15:11:04.146901+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fars2 has been classified as Green List (High Evidence).",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2026-02-17T15:11:00.166614+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FARS2 as Green List (high evidence)",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2026-02-17T15:11:00.155418+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fars2 has been classified as Green List (High Evidence).",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2026-02-17T15:10:49.325482+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FARS2 was added\ngene: FARS2 was added to Cardiomyopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FARS2 were set to 33168986; 38362779; 41588148; 34690748\nPhenotypes for gene: FARS2 were set to Combined oxidative phosphorylation deficiency MIM#614946\nReview for gene: FARS2 was set to GREEN\nAdded comment: Cardiomyopathy is part of the phenotype. \nSources: Literature",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2026-02-17T15:07:33.218042+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAM111A as ready",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2026-02-17T15:07:33.210554+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam111a has been classified as Green List (High Evidence).",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2026-02-17T15:06:42.227389+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FAM111A were set to ",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2026-02-17T15:05:58.834458+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAM111A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2026-02-17T15:05:21.264564+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FAM111A: Rating: AMBER; Mode of pathogenicity: None; Publications: 39932783, 39501122; Phenotypes: Kenny-Caffey syndrome, type 2, MIM# 127000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2026-02-17T15:04:33.707323+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAM111A were changed from autosomal dominant Kenny-Caffey syndrome MONDO:0007478 to Kenny-Caffey syndrome, type 2, MIM# 127000",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2026-02-17T15:04:13.618773+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FAM111A were set to 23684011; 32996714; 32765931; 33010201",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2026-02-17T15:03:53.317814+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAM111A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2026-02-17T15:03:34.025377+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FAM111A: Rating: AMBER; Mode of pathogenicity: None; Publications: 39932783, 39501122; Phenotypes: Kenny-Caffey syndrome, type 2, MIM# 127000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2026-02-17T14:35:20.761878+11:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STEAP3 were set to 22031863; 25515317; 26675350",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2026-02-17T14:35:06.178124+11:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STEAP3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2026-02-17T14:34:46.241094+11:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: STEAP3: Added comment: PMID 38360212 reports two unrelated families with compound heterozygous STEAP3 missense variants (p.I177M, p.T495M) causing childhood-onset microcytic anaemia; functional ferrireductase assays in HeLa cells demonstrate loss of activity. Part of large cohort study, low level of individual detail.; Changed publications: 22031863, 25515317, 26675350, 38360212; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2026-02-17T14:34:07.651116+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STEAP3 were set to 22031863; 25515317; 26675350",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2026-02-17T14:33:59.526673+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STEAP3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2026-02-17T14:33:44.179380+11:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: STEAP3: Added comment: PMID 38360212 reports two unrelated families with compound heterozygous STEAP3 missense variants (p.I177M, p.T495M) causing childhood-onset microcytic anaemia; functional ferrireductase assays in HeLa cells demonstrate loss of activity. Part of large cohort study, low level of individual detail.; Changed publications: 22031863, 25515317, 26675350, 38360212; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2026-02-17T14:32:51.988379+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STEAP3 were set to 22031863; 25515317; 26675350",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2026-02-17T14:32:35.172843+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STEAP3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2026-02-17T14:31:50.756018+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: STEAP3: Added comment: PMID 38360212 reports two unrelated families with compound heterozygous STEAP3 missense variants (p.I177M, p.T495M) causing childhood-onset microcytic anaemia; functional ferrireductase assays in HeLa cells demonstrate loss of activity. Part of large cohort study, low level of individual detail.; Changed publications: 22031863, 25515317, 26675350, 38360212; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "STEAP3",
"entity_type": "gene"
},
{
"created": "2026-02-17T14:14:50.555860+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4301",
"user_name": "Katrina Bell",
"item_type": "entity",
"text": "All sources for gene: TRU-TCA1-1 were removed",
"entity_name": "TRU-TCA1-1",
"entity_type": "gene"
},
{
"created": "2026-02-16T15:55:41.810521+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTBP1 were changed from Neurodevelopmental disorder (MONDO:0700092), PTBP1-related to STAD syndrome, MIM# 621495",
"entity_name": "PTBP1",
"entity_type": "gene"
},
{
"created": "2026-02-16T15:55:28.728319+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: STAD syndrome, MIM# 621495; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTBP1",
"entity_type": "gene"
},
{
"created": "2026-02-16T15:55:12.506862+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTBP1 were changed from Neurodevelopmental disorder (MONDO:0700092), PTBP1-related to STAD syndrome, MIM# 621495",
"entity_name": "PTBP1",
"entity_type": "gene"
},
{
"created": "2026-02-16T15:54:43.252396+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: STAD syndrome, MIM# 621495; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTBP1",
"entity_type": "gene"
},
{
"created": "2026-02-16T15:54:28.532556+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTBP1 were changed from Neurodevelopmental disorder (MONDO:0700092), PTBP1-related to STAD syndrome, MIM# 621495",
"entity_name": "PTBP1",
"entity_type": "gene"
},
{
"created": "2026-02-16T15:53:59.418962+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: STAD syndrome, MIM# 621495; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTBP1",
"entity_type": "gene"
},
{
"created": "2026-02-16T15:53:24.213098+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTBP1 were changed from Neurodevelopmental disorder (MONDO:0700092), PTBP1-related to STAD syndrome, MIM# 621495",
"entity_name": "PTBP1",
"entity_type": "gene"
},
{
"created": "2026-02-16T15:53:03.272465+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: STAD syndrome, MIM# 621495; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTBP1",
"entity_type": "gene"
},
{
"created": "2026-02-16T15:50:55.874642+11:00",
"panel_name": "Dystonia and Chorea",
"panel_id": 290,
"panel_version": "0.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP5B as ready",
"entity_name": "ATP5B",
"entity_type": "gene"
},
{
"created": "2026-02-16T15:50:55.863735+11:00",
"panel_name": "Dystonia and Chorea",
"panel_id": 290,
"panel_version": "0.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp5b has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP5B",
"entity_type": "gene"
},
{
"created": "2026-02-16T15:50:53.503583+11:00",
"panel_name": "Dystonia and Chorea",
"panel_id": 290,
"panel_version": "0.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP5B were changed from Inherited dystonia, MONDO:0044807, ATP5B-related to Dystonia 38, susceptibility to, MIM# 621502",
"entity_name": "ATP5B",
"entity_type": "gene"
},
{
"created": "2026-02-16T15:50:41.447047+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP5B were changed from Dystonia 38, susceptibility to, MIM# 621502; Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085 to Dystonia 38, susceptibility to, MIM# 621502; Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085",
"entity_name": "ATP5B",
"entity_type": "gene"
},
{
"created": "2026-02-16T15:50:36.156240+11:00",
"panel_name": "Dystonia and Chorea",
"panel_id": 290,
"panel_version": "0.337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP5B: Changed phenotypes: Dystonia 38, susceptibility to, MIM# 621502, Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085",
"entity_name": "ATP5B",
"entity_type": "gene"
},
{
"created": "2026-02-16T15:50:15.567122+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP5B were changed from Inherited dystonia, MONDO:0044807, ATP5B-related; Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085 to Dystonia 38, susceptibility to, MIM# 621502; Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085",
"entity_name": "ATP5B",
"entity_type": "gene"
},
{
"created": "2026-02-16T15:49:36.390505+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP5B: Changed phenotypes: Dystonia 38, susceptibility to, MIM# 621502, Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085",
"entity_name": "ATP5B",
"entity_type": "gene"
},
{
"created": "2026-02-16T15:49:14.824077+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP5B were changed from Inherited dystonia, MONDO:0044807, ATP5B-related; Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085 to Dystonia 38, susceptibility to, MIM# 621502; Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085",
"entity_name": "ATP5B",
"entity_type": "gene"
},
{
"created": "2026-02-16T15:48:29.573040+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP5B: Changed phenotypes: Dystonia 38, susceptibility to, MIM# 621502, Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085",
"entity_name": "ATP5B",
"entity_type": "gene"
},
{
"created": "2026-02-16T12:31:47.994467+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "1.0",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Both AD and AR GDA has been classified as DEFINITIVE by ClinGen Skeletal Dysplasia GCEP in 2023\r\n\r\nAD - https://search.clinicalgenome.org/CCID:004466\r\nAR - https://search.clinicalgenome.org/CCID:004467; to: Both AD and AR GDA has been classified as DEFINITIVE by ClinGen Skeletal Dysplasia GCEP in 2023\r\n\r\nAD - https://search.clinicalgenome.org/CCID:004466 - Dominant negative MOD\r\nAR - https://search.clinicalgenome.org/CCID:004467 - Loss of function MOD",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2026-02-16T12:31:25.412801+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "1.0",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: CLCN7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: autosomal dominant osteopetrosis 2 MONDO:0008156, autosomal recessive osteopetrosis 4 MONDO:0012676; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2026-02-16T11:21:36.663859+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GP1BB as ready",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2026-02-16T11:21:36.648332+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gp1bb has been classified as Green List (High Evidence).",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2026-02-16T11:21:32.523446+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GP1BB were changed from Bernard-Soulier syndrome (BSS) to ulier syndrome, type B, MIM# 231200; Macrothrombocytopaenia",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2026-02-16T11:21:22.644561+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GP1BB were set to ",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2026-02-16T11:21:14.796577+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GP1BB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2026-02-16T08:06:16.754313+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GDF3 were changed from Microphthalmia with coloboma 6, MIM# 613703; Microphthalmia, isolated 7, MIM# 613704 to Microphthalmia with coloboma 6, MIM# 613703; Microphthalmia, isolated 7, MIM# 613704; Klippel-Feil anomaly with laryngeal malformation - 613702",
"entity_name": "GDF3",
"entity_type": "gene"
},
{
"created": "2026-02-16T08:05:51.030133+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GDF3: Added comment: Single family reported with the skeletal phenotype in 2010, none since. Note they also had ocular abnormalities so unclear if this is a distinct association.; Changed phenotypes: Microphthalmia with coloboma 6 613703, Microphthalmia, isolated 7 613704, Klippel-Feil anomaly with laryngeal malformation - 613702",
"entity_name": "GDF3",
"entity_type": "gene"
},
{
"created": "2026-02-16T08:04:36.687485+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GDF3 as ready",
"entity_name": "GDF3",
"entity_type": "gene"
},
{
"created": "2026-02-16T08:04:36.677590+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gdf3 has been classified as Red List (Low Evidence).",
"entity_name": "GDF3",
"entity_type": "gene"
},
{
"created": "2026-02-16T08:04:28.500964+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "GDF3",
"entity_type": "gene"
},
{
"created": "2026-02-16T08:04:16.469171+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GDF3: Added comment: Single family reported in 2010 with this phenotype, none since. Note ocular abnormalities also present so unsure if this is a distinct disorder.; Changed phenotypes: Klippel-Feil anomaly with laryngeal malformation - 613702",
"entity_name": "GDF3",
"entity_type": "gene"
},
{
"created": "2026-02-16T08:02:49.351504+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GDF3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GDF3",
"entity_type": "gene"
},
{
"created": "2026-02-16T08:02:21.362055+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GDF3: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GDF3",
"entity_type": "gene"
},
{
"created": "2026-02-16T07:59:28.513572+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GDF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GDF3",
"entity_type": "gene"
},
{
"created": "2026-02-16T07:59:11.332801+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GDF3: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GDF3",
"entity_type": "gene"
},
{
"created": "2026-02-15T20:13:42.359140+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZFHX3 were changed from developmental and epileptic encephalopathy MONDO:0100062 to {Epilepsy, idiopathic generalized, susceptibility to}, MIM#621500",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2026-02-15T20:13:03.707543+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZFHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Epilepsy, idiopathic generalized, susceptibility to}, MIM#621500; Mode of inheritance: None",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2026-02-15T20:12:42.639413+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZFHX3 were changed from Neurodevelopmental disorder, MONDO:0700092, ZFHX3-related; developmental and epileptic encephalopathy MONDO:0100062, ZFHX3-related to Neurodevelopmental disorder, MONDO:0700092, ZFHX3-related; {Epilepsy, idiopathic generalized, susceptibility to}, MIM#621500",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2026-02-15T20:12:14.731020+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ZFHX3: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, ZFHX3-related, {Epilepsy, idiopathic generalized, susceptibility to}, MIM#621500",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2026-02-14T19:31:13.329898+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4295",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PTPRF was added\ngene: PTPRF was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PTPRF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTPRF were set to 24781087\nPhenotypes for gene: PTPRF were set to breasts and/or nipples, aplasia or hypoplasia of, 2 MONDO:0014450\nReview for gene: PTPRF was set to RED\nAdded comment: A single consanguineous family with a homozygous variant \nSources: Literature",
"entity_name": "PTPRF",
"entity_type": "gene"
},
{
"created": "2026-02-14T19:02:01.327309+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.422",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PLA2G2A was added\ngene: PLA2G2A was added to Incidentalome. Sources: Literature\nMode of inheritance for gene: PLA2G2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PLA2G2A were set to 9272153; 8912789\nPhenotypes for gene: PLA2G2A were set to colorectal cancer MONDO:0005575\nReview for gene: PLA2G2A was set to RED\nAdded comment: Single case reported with a frameshift variant (c.144_145del) that has 61 hets present in gnomAD. \nSources: Literature",
"entity_name": "PLA2G2A",
"entity_type": "gene"
},
{
"created": "2026-02-14T17:23:59.480015+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.666",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: PRODH as Amber List (moderate evidence)",
"entity_name": "PRODH",
"entity_type": "gene"
},
{
"created": "2026-02-14T17:23:59.471593+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.666",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: prodh has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRODH",
"entity_type": "gene"
},
{
"created": "2026-02-14T17:23:27.708355+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.245",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Phenotypes for gene: PRODH were changed from to hyperprolinemia type 1 - MONDO:0009400",
"entity_name": "PRODH",
"entity_type": "gene"
},
{
"created": "2026-02-14T17:23:14.691466+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.245",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRODH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRODH",
"entity_type": "gene"
},
{
"created": "2026-02-14T17:22:56.857241+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.245",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: PRODH as Amber List (moderate evidence)",
"entity_name": "PRODH",
"entity_type": "gene"
},
{
"created": "2026-02-14T17:22:56.845183+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.245",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: prodh has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRODH",
"entity_type": "gene"
},
{
"created": "2026-02-14T17:22:54.508688+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.244",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Marked gene: PRODH as ready",
"entity_name": "PRODH",
"entity_type": "gene"
},
{
"created": "2026-02-14T17:22:54.499237+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.244",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: prodh has been classified as Green List (High Evidence).",
"entity_name": "PRODH",
"entity_type": "gene"
},
{
"created": "2026-02-14T17:22:48.539591+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.377",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: PRODH as Amber List (moderate evidence)",
"entity_name": "PRODH",
"entity_type": "gene"
},
{
"created": "2026-02-14T17:22:48.527077+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.377",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: prodh has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRODH",
"entity_type": "gene"
},
{
"created": "2026-02-14T17:22:19.147913+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.377",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Publications for gene: PRODH were set to 17412540; 12217952",
"entity_name": "PRODH",
"entity_type": "gene"
},
{
"created": "2026-02-14T17:21:46.154424+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.376",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: PRODH as Amber List (moderate evidence)",
"entity_name": "PRODH",
"entity_type": "gene"
},
{
"created": "2026-02-14T17:21:46.143513+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.376",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: prodh has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRODH",
"entity_type": "gene"
},
{
"created": "2026-02-14T17:21:21.548519+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.376",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: PRODH as Amber List (moderate evidence)",
"entity_name": "PRODH",
"entity_type": "gene"
},
{
"created": "2026-02-14T17:21:21.536198+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.376",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: prodh has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRODH",
"entity_type": "gene"
},
{
"created": "2026-02-14T17:20:03.607934+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.375",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PRODH: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID 34285201, 17412540, 18197084, 12525555; Phenotypes: hyperprolinemia type 1 - MONDO:0009400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRODH",
"entity_type": "gene"
},
{
"created": "2026-02-14T17:19:55.359275+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.665",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PRODH: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID 34285201, 17412540, 18197084, 12525555; Phenotypes: hyperprolinemia type 1 - MONDO:0009400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRODH",
"entity_type": "gene"
},
{
"created": "2026-02-14T17:18:13.059757+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.244",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PRODH: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID 34285201, 17412540, 18197084, 12525555; Phenotypes: hyperprolinemia type 1 - MONDO:0009400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRODH",
"entity_type": "gene"
},
{
"created": "2026-02-13T11:32:55.765803+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4294",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene MYL4 from panel Atrial Fibrillation",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-13T11:32:55.194857+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4294",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MYL4 was added\ngene: MYL4 was added to Mendeliome. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: MYL4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: MYL4 were set to 27742809; 27066836; 29080865\nPhenotypes for gene: MYL4 were set to atrial fibrillation, familial, 18 MONDO:0015001",
"entity_name": "MYL4",
"entity_type": "gene"
},
{
"created": "2026-02-13T11:30:58.686816+11:00",
"panel_name": "Atrial Fibrillation",
"panel_id": 210,
"panel_version": "1.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MYL4 as Amber List (moderate evidence)",
"entity_name": "MYL4",
"entity_type": "gene"
},
{
"created": "2026-02-13T11:30:58.676936+11:00",
"panel_name": "Atrial Fibrillation",
"panel_id": 210,
"panel_version": "1.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: myl4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYL4",
"entity_type": "gene"
},
{
"created": "2026-02-13T11:30:29.670095+11:00",
"panel_name": "Atrial Fibrillation",
"panel_id": 210,
"panel_version": "1.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MYL4 was added\ngene: MYL4 was added to Atrial Fibrillation. Sources: Literature\nMode of inheritance for gene: MYL4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: MYL4 were set to 27742809; 27066836; 29080865\nPhenotypes for gene: MYL4 were set to atrial fibrillation, familial, 18 MONDO:0015001\nReview for gene: MYL4 was set to AMBER\nAdded comment: PMID: 27742809 - MYL4 c.234delC identified homozygous in 8 cases from 5 families with early-onset atrial fibrillation in the Icelandic population. Heterozygous individuals were apparently unaffected.\r\nPMID: 27066836 - heterozygous MYL4 p.Glu11Lys segregates with early-onset atrial fibrillation in a single family. Zebrafish model of the variant (E17K) recapitulated atrial fibrillation.\r\nPMID: 29080865 - rat knock-in model MYL4p.E11K induced fibrotic atrial cardiomyopathy \nSources: Literature",
"entity_name": "MYL4",
"entity_type": "gene"
},
{
"created": "2026-02-13T09:34:36.314920+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4293",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: CTSO was added\ngene: CTSO was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CTSO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CTSO were set to 41508845\nPhenotypes for gene: CTSO were set to Brain aneurysm, MONDO:0005291, CTSO-related\nReview for gene: CTSO was set to RED\nAdded comment: PMID:41508845 reports 9 individuals from 2 unrelated families with heterozygous missense CTSO variants presenting with familial intracranial aneurysm; an additional 8 relatives were heterozygous for a CTSO variant but had no intracranial aneurysm; 16 unaffected relatives did not have a CTSO variant. The two missense variants identified in these families are present in gnomAD v4, p.(Val316Ile) with 84 hets, p.(Ala43Val) with 683 hets, 1 hom.\r\n\r\nIn‑vitro VSMC knock‑down and mutant‑expression assays showed reduced CTSO secretion, increased fibronectin deposition, increased cell stiffness; but a causal relationship between CTSO variants and intracranial aneurysm has not been demonstrated in an in‑vivo model \nSources: Literature",
"entity_name": "CTSO",
"entity_type": "gene"
},
{
"created": "2026-02-13T09:25:56.155025+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4292",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "changed review comment from: GREEN rating for monoallelic lymphatic malformation 9, MIM# 619319\r\n\r\nGREEN rating for biallelic neurodevelopmental disorder association:\r\nPMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants association with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls.\r\nPMID: 36453712 describe 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI.; to: GREEN rating for monoallelic lymphatic malformation 9, MIM# 619319\r\n\r\nGREEN rating for biallelic neurodevelopmental disorder association:\r\nPMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants associated with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls.\r\nPMID: 36453712 describe 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI.",
"entity_name": "CELSR1",
"entity_type": "gene"
},
{
"created": "2026-02-13T09:25:48.329415+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.665",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "changed review comment from: GREEN rating for biallelic neurodevelopmental disorder association\r\nPMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants association with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls.\r\n\r\nPMID: 36453712 describes 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI. \r\nSources: Literature; to: GREEN rating for biallelic neurodevelopmental disorder association\r\nPMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants associated with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls.\r\n\r\nPMID: 36453712 describes 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI. \r\nSources: Literature",
"entity_name": "CELSR1",
"entity_type": "gene"
},
{
"created": "2026-02-13T09:25:38.122972+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.375",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "changed review comment from: GREEN rating for biallelic neurodevelopmental disorder association:\r\n\r\nPMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants association with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls.\r\n\r\nPMID: 36453712 describes 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI. \nSources: Literature; to: GREEN rating for biallelic neurodevelopmental disorder association:\r\n\r\nPMID: 41530147 describes 7 individuals from 5 unrelated families with biallelic CELSR1 variants associated with brain malformations, neurodevelopmental delay, intellectual disability, behavioural disorders, and 4/7 individuals with epilepsy. Celsr1 knockout mice recapitulate brain malformations and seizure susceptibility. Heterozygous mice were indistinguishable from controls.\r\n\r\nPMID: 36453712 describes 4 additional compound heterozygous individuals with epilepsy, 3/4 reported with mild intellectual disability and no abnormalities on brain MRI. \r\nSources: Literature",
"entity_name": "CELSR1",
"entity_type": "gene"
},
{
"created": "2026-02-13T09:25:18.414796+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.375",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Classified gene: CELSR1 as Green List (high evidence)",
"entity_name": "CELSR1",
"entity_type": "gene"
},
{
"created": "2026-02-13T09:25:18.404735+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.375",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "Gene: celsr1 has been classified as Green List (High Evidence).",
"entity_name": "CELSR1",
"entity_type": "gene"
}
]
}